Disease+Summary+Report+-++Huntington's+Disease


 * Huntington’s Disease**

Ji Young Lee Lab Science 10 2B February 2, 2010 Huntington’s disease (HD) is a serious disease that affects around 1 in 15,000 people around the world depending on the region. It is the degeneration of brain cells in certain areas of the brain. This slowly impairs the person’s ability to walk, reason, and think. In the early stage, the patient will have mood swings, and just appear clumsy. As this disease progresses, a person is unable to learn new things, remember things, and drive. It may also result in uncontrollable movements of the hands, legs, etc, which are the signs of chorea, unconscious twitches and writhing movements of the body. A person with Huntington’s will gradually have slurred speech and their ability to swallow, eat, talk, and walk will decline. These despairing symptoms exhibited between 30 and 50 years of age in over 90% of the cases, but this does not restrict it to just adults. It can appear during the teens and this is called juvenile HD. The disease progresses faster in juvenile HD patients with death following within 10 years. In most cases, the illness lasts about 10 to 30 years. Most people die because their body slows down, or of infection like pneumonia.

Huntington’s disease, which causes the brain to deteriorate, unfortunately is an autosomal dominant disease. This means that it takes only one copy of the defective gene to get it. The offspring of a HD parent has a 50-50 chance of inheriting the disease. The family pedigree shown on the right shows the black squares and circles as people with Huntington’s, and the whites ones as unaffected normal people. As one can easily see, if one parent has it, there is an inheritance of the disease in the next generation and it will continue on. If the offspring is lucky and doesn’t inherit it, he or she will not pass it on to further generations. Although it is a genetically inherited disease, around 3% of the cases are sporadic, meaning the patient had no family history of Huntington’s. It is the malfunctioning of chromosome number4 in which the gene is located near the end of the short arm of it and codes for a protein called huntingtin. This protein, which carries amino acid glutamine, is involved in various metabolic processes. The chromosome’s regular combination of bases is CAG, cytosine, adenine, and guanine. In Huntington’s disease, this sequence repeats dozens of times and expands. An excessive number of glutamine slowly clumps together in the parts of the brain where movement is controlled. It is not sex-linked, so men and women at are equal risk.

Prenatal testing, also called amniocentesis which is a sample of fluid from around the fetus, or chorionic vilus sampling (CVS), a sample of fetal cells from the placenta, will show if the baby has Huntington’s disease or not. People at the risk of inheriting this disease can get a blood test and find out. Although there is no cure for Huntington’s disease, medications can be prescribed to help control mood swings and Huntington’s chorea. Tetrabenazine is the first drug approved in the US to treat Huntington’s chorea, but most drugs used to limit the effects of Huntington’s disease have side effects such as fatigue or restlessness. It is extremely important for patients to exercise to slow the degeneration. A well-rounded life has the potential to regress the symptoms. Proper diet, exercise, and psychosocial support are crucial to patients for this helps them live longer. Speech therapy and other activities can improve speech and swallowing problems. Huntington disease is an early death sentence, but there are many ways to live happily and enjoy the rest of one’s life.

Many researches have been done since George Huntington first described the illness in 1872. Now they even have located the gene, and are investigating how it causes the disease in the human body. Clinical trials are going on as lab rats are also being bred to carry Huntington’s. As reported on //Genomics & Genetics Weekly// on March 2009, Cortex Pharmaceuticals announced that ampakine, a stimulant to enhance alertness, has been shown to treat memory loss in Huntington’s disease. Lab rats with Huntington’s showed dramatic increases in brain activity, and seemed to be more able to store and process memories. Their experiment showed how they could use ampakine to fix memory impairments. With small improvements and breakthroughs like this, Huntington’s disease one day will be cured without a doubt.

Huntington’s disease has been a disease of interest for many people, especially because in the famous medical drama House MD, one of the main doctors called Remy Hadley, shown in the left, was diagnosed with Huntington’s disease. In the TV show, she appeared as someone who falls a lot and does inappropriate things, because she knows she only has around 10 years to live. By observing her reckless behavior in the TV show, people can learn that it is a devastating experience to be diagnosed with a death sentence. Thus it emphasizes the importance of how one needs to be able to handle and accept her disease in a mature way.

Bibliography · Hicks, Rob, and Trisha Macnair. "BBC - Health - Conditions - Huntington's disease." //BBC - Homepage//. Web. 25 Jan. 2010. . · "Huntington Family Pedigree." Chart. //University of Illinois at Chicago//. Web. 27 Jan. 2010. . · National Institute of Neurological Disorders and Stroke. "Huntington's Disease Information Page." //National Institute of Neurological Disorders and Stroke (NINDS)//. 15 May 2009. Web. 25 Jan. 2010. . · //Remy Hadley//. Photograph. //Hotvnews//. 7 May 2008. Web. 27 Jan. 2010. . · "Studies in Animals Demonstrate AMPAKINE Molecules Reverse Memory Loss in Huntingtons Disease." Genomics & Genetics Weekly, March 27, 2009 p21. //Science Resource Center//. Gale. 19 January 2010 [] · Twyman, Richard. "Huntington's disease | The Human Genome." //Genome | The Human Genome//. Web. 25 Jan. 2010. .